| Title |
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
|
|---|---|
| Published in |
Journal of Neurodevelopmental Disorders, August 2018
|
| DOI | 10.1186/s11689-018-9242-0 |
| Pubmed ID | |
| Authors |
Emma K. Baker, David E. Godler, Minh Bui, Chriselle Hickerton, Carolyn Rogers, Mike Field, David J. Amor, Lesley Bretherton |
| Abstract |
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 2 | 50% |
| Unknown | 2 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 50% |
| Scientists | 1 | 25% |
| Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 101 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 101 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 13 | 13% |
| Researcher | 12 | 12% |
| Student > Ph. D. Student | 12 | 12% |
| Student > Bachelor | 7 | 7% |
| Student > Doctoral Student | 7 | 7% |
| Other | 10 | 10% |
| Unknown | 40 | 40% |
| Readers by discipline | Count | As % |
|---|---|---|
| Psychology | 22 | 22% |
| Medicine and Dentistry | 10 | 10% |
| Nursing and Health Professions | 10 | 10% |
| Social Sciences | 4 | 4% |
| Agricultural and Biological Sciences | 2 | 2% |
| Other | 8 | 8% |
| Unknown | 45 | 45% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 September 2019.
All research outputs
#15,095,138
of 25,654,806 outputs
Outputs from Journal of Neurodevelopmental Disorders
#342
of 514 outputs
Outputs of similar age
#175,772
of 341,495 outputs
Outputs of similar age from Journal of Neurodevelopmental Disorders
#2
of 5 outputs
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